Incidental Mutation 'IGL01362:Ifit1bl2'
ID75786
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ifit1bl2
Ensembl Gene ENSMUSG00000067297
Gene Nameinterferon induced protein with tetratricopeptide repeats 1B like 2
Synonyms2010002M12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01362
Quality Score
Status
Chromosome19
Chromosomal Location34617049-34640743 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 34619484 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 244 (T244I)
Ref Sequence ENSEMBL: ENSMUSP00000108082 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087357] [ENSMUST00000112463]
Predicted Effect probably benign
Transcript: ENSMUST00000087357
AA Change: T244I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000093816
Gene: ENSMUSG00000067297
AA Change: T244I

DomainStartEndE-ValueType
TPR 60 93 2.92e1 SMART
TPR 100 133 6.24e1 SMART
TPR 144 179 4.32e1 SMART
low complexity region 217 230 N/A INTRINSIC
TPR 249 282 2.24e1 SMART
TPR 334 367 4.55e1 SMART
low complexity region 411 421 N/A INTRINSIC
TPR 429 462 1.45e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112463
AA Change: T244I

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000108082
Gene: ENSMUSG00000067297
AA Change: T244I

DomainStartEndE-ValueType
TPR 60 93 2.92e1 SMART
TPR 100 133 6.24e1 SMART
TPR 144 179 4.32e1 SMART
low complexity region 217 230 N/A INTRINSIC
TPR 249 282 2.24e1 SMART
TPR 334 367 4.55e1 SMART
low complexity region 411 421 N/A INTRINSIC
TPR 429 462 1.45e-1 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc12 T A 8: 86,534,693 D733V probably benign Het
Baz2a G A 10: 128,121,964 G1062D probably damaging Het
Bmp8a C A 4: 123,313,301 R389L probably damaging Het
Ccdc148 A G 2: 58,829,799 V488A probably benign Het
Cdh24 T C 14: 54,638,432 I227V probably benign Het
Dnah6 A G 6: 73,092,178 F2509L probably damaging Het
Dusp1 A G 17: 26,506,644 I247T probably benign Het
Erich6 G A 3: 58,622,360 probably null Het
Fam186b T C 15: 99,280,318 T376A probably benign Het
Gbp9 T C 5: 105,080,206 E570G probably damaging Het
Gm5117 G T 8: 31,737,919 noncoding transcript Het
Gpr37l1 A G 1: 135,161,478 V283A probably benign Het
Heatr5b A G 17: 78,816,338 probably benign Het
Mcoln1 T C 8: 3,507,558 V188A possibly damaging Het
Mon1a T C 9: 107,902,684 L484P probably damaging Het
Mrgprg T A 7: 143,765,069 D102V probably damaging Het
Mto1 T A 9: 78,452,774 S181R probably benign Het
Myh11 C T 16: 14,277,722 V59I probably benign Het
Myo7a G A 7: 98,097,702 T163I probably damaging Het
Nr4a3 A C 4: 48,051,586 Q142H possibly damaging Het
Olfr1387 A G 11: 49,460,443 I255V probably benign Het
Olfr145 A G 9: 37,898,063 I220V probably benign Het
Olfr237-ps1 A G 6: 43,153,635 E110G probably damaging Het
Olfr295 A T 7: 86,585,439 T55S possibly damaging Het
Pkd1l2 A G 8: 117,021,856 S1859P probably damaging Het
Pkhd1l1 A G 15: 44,532,982 T1967A probably benign Het
Plppr3 C T 10: 79,865,961 R349Q probably damaging Het
Ppp2r5d A G 17: 46,685,517 probably null Het
Prl2c2 C T 13: 13,002,243 C33Y probably damaging Het
Prl3d2 T A 13: 27,122,455 L55* probably null Het
Ralgapb C T 2: 158,435,465 R250C probably damaging Het
Scamp3 C T 3: 89,179,134 P63S probably benign Het
Slc22a6 A G 19: 8,621,208 I210V possibly damaging Het
Stard13 T A 5: 151,189,952 H48L probably benign Het
Tm6sf2 G A 8: 70,077,915 R215H probably damaging Het
Twist2 T C 1: 91,801,928 L101P probably damaging Het
Uvrag A G 7: 98,888,513 S492P probably benign Het
Zan T C 5: 137,452,450 T1622A unknown Het
Zswim2 T A 2: 83,915,346 T583S probably benign Het
Other mutations in Ifit1bl2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Ifit1bl2 APN 19 34619919 missense probably benign 0.22
IGL00706:Ifit1bl2 APN 19 34618882 missense probably benign 0.09
IGL01322:Ifit1bl2 APN 19 34619004 missense probably benign 0.10
IGL03061:Ifit1bl2 APN 19 34619724 missense probably benign 0.41
R0039:Ifit1bl2 UTSW 19 34619446 nonsense probably null
R1079:Ifit1bl2 UTSW 19 34619485 missense probably benign 0.00
R1438:Ifit1bl2 UTSW 19 34619169 missense possibly damaging 0.70
R2050:Ifit1bl2 UTSW 19 34619470 missense possibly damaging 0.75
R2104:Ifit1bl2 UTSW 19 34619520 missense probably benign 0.01
R2228:Ifit1bl2 UTSW 19 34619230 missense possibly damaging 0.70
R2229:Ifit1bl2 UTSW 19 34619230 missense possibly damaging 0.70
R4468:Ifit1bl2 UTSW 19 34619068 nonsense probably null
R4517:Ifit1bl2 UTSW 19 34629764 start gained probably benign
R5723:Ifit1bl2 UTSW 19 34620058 missense probably benign 0.07
R5935:Ifit1bl2 UTSW 19 34619728 missense probably benign 0.04
R6024:Ifit1bl2 UTSW 19 34620038 missense probably benign 0.00
R6083:Ifit1bl2 UTSW 19 34619817 missense possibly damaging 0.80
R6085:Ifit1bl2 UTSW 19 34619817 missense possibly damaging 0.80
R6280:Ifit1bl2 UTSW 19 34620134 missense possibly damaging 0.70
R6368:Ifit1bl2 UTSW 19 34619125 missense probably benign 0.00
R6905:Ifit1bl2 UTSW 19 34619590 missense possibly damaging 0.90
R7048:Ifit1bl2 UTSW 19 34619151 missense probably benign 0.04
R7355:Ifit1bl2 UTSW 19 34619661 missense probably damaging 1.00
R7447:Ifit1bl2 UTSW 19 34619574 missense probably damaging 1.00
R7661:Ifit1bl2 UTSW 19 34619028 missense probably damaging 0.99
Posted On2013-10-07